Aim: To expand the treatment options in paediatric Gorham-Stout syndrome (GSS) when conventional therapy is ineffective.
Method: Two children with biopsy confirmed GSS, a rare disorder with progressive lymphangiomatosis, were treated with a combination of interferon-α-2b, low anticoagulant, low molecular weight heparin, radiotherapy and surgery.
Results: The combined therapy resolved the symptoms in the acute phase, and both patients have since been free of symptoms for >2 years.
Conclusion: The successful addition of a low anticoagulant, low molecular weight heparin (tafoxiparin) to the treatment protocol in two paediatric cases of the GSS may justify the use of this approach in similar cases.
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http://dx.doi.org/10.1111/j.1651-2227.2011.02361.x | DOI Listing |
JBJS Case Connect
October 2024
Department of Orthopaedics, Texas Scottish Rite Hospital for Children, Dallas, Texas.
Case: This is a case of a 6-year-old patient diagnosed with Gorham-Stout disease (GSD), a rare lymphangiogenic skeletal disorder, localized to the left femur. Initial nonoperative treatment with pharmaceuticals and bracing was unsuccessful. We describe a definitive operative treatment with radical femoral resection and a modified rotationplasty technique through a tibiopelvic rotational hip arthroplasty.
View Article and Find Full Text PDFPediatr Blood Cancer
February 2025
Division of Pediatric Hematology/Oncology, Phoenix Children's Hospital, Phoenix, Arizona, USA.
Genetically targeted medications are emerging as important therapies for lymphatic malformations (LMs) unresponsive to sirolimus. We describe two patients with EML4::ALK-positive LMs, one with Gorham Stout disease and one with a large genitourinary (GU) LM, who were successfully treated with ALK inhibitors. This report adds ALK inhibitors to the growing toolbox of molecularly targeted therapies for LMs.
View Article and Find Full Text PDFInt J Pediatr Otorhinolaryngol
July 2024
Harvard Medical School, Boston, MA, 02115, USA; Department of Otolaryngology & Communication Enhancement, Boston Children's Hospital, Boston, MA, 02115, USA. Electronic address:
Objective: Atraumatic cerebrospinal fluid (CSF) rhinorrhea is uncommon in children and necessitates a multi-disciplinary evaluation for an etiology. Underlying osseous abnormality due to extensive or multifocal low flow vascular anomaly should be considered as a potential cause of spontaneous CSF leak. Treatment of multifocal low flow vascular anomalies may include medical and surgical approaches.
View Article and Find Full Text PDFJ Endocrinol Invest
November 2024
Bone Physiopathology Research Unit, Translational Pediatrics and Clinical Genetics Research Division, Bambino Gesù Children's Hospital, IRCCS, Viale San Paolo 15, 00146, Rome, Italy.
Purpose: Gorham-Stout disease is a very rare disorder characterized by progressive bone erosion and angiomatous proliferation; its etiopathogenesis is still unknown, and diagnosis is still performed by exclusion criteria. The alteration of bone remodeling activity has been reported in patients; in this study, we characterized circulating osteoclast and osteogenic precursors that could be important to better understand the osteolysis observed in patients.
Methods: Flow cytometry analysis of PBMC (Peripheral Blood Mononuclear Cells) was performed to characterize circulating osteoclast and osteogenic precursors in GSD patients (n = 9) compared to healthy donors (n = 55).
Turk Arch Pediatr
March 2024
Department of Radiology, Akita University Graduate School of Medicine, Akita, Japan.
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